Canonical Allele Identifier: CA433895464

Gene: CACNA1D

Linked Data

• gnomAD v4: 3-53723816-A-G
• MyVariant Identifiers: chr3:g.53757843A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53723816A>G , CM000665.2:g.53723816A>G	GRCh38
NC_000003.11:g.53757843A>G , CM000665.1:g.53757843A>G	GRCh37
NC_000003.10:g.53732883A>G	NCBI36
NG_032999.1:g.233768A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481478.2:c.1977A>G	ENSP00000418014.2:p.Leu659=
ENST00000636627.2:c.1977A>G	ENSP00000490889.2:p.Leu659=
ENST00000288139.11:c.1977A>G MANE Plus Clinical	ENSP00000288139.3:p.Leu659=
ENST00000350061.11:c.1917A>G MANE Select	ENSP00000288133.5:p.Leu639=
ENST00000422281.7:c.1917A>G	ENSP00000409174.2:p.Leu639=
ENST00000636570.1:c.1917A>G	ENSP00000490183.1:p.Leu639=
ENST00000636627.1:c.1217A>G
ENST00000636938.1:c.1917A>G	ENSP00000490039.1:p.Leu639=
ENST00000637424.1:c.1989A>G	ENSP00000489769.1:p.Leu663=
ENST00000640483.1:c.1950A>G	ENSP00000491921.1:p.Leu650=
ENST00000288139.8:c.1977A>G	ENSP00000288139.3:p.Leu659=
ENST00000350061.9:c.1917A>G	ENSP00000288133.5:p.Leu639=
ENST00000422281.6:c.1917A>G	ENSP00000409174.2:p.Leu639=
ENST00000481478.1:c.996A>G	ENSP00000418014.1:p.Leu332=
NM_000720.3:c.1977A>G	NP_000711.1:p.Leu659=
NM_001128839.2:c.1917A>G	NP_001122311.1:p.Leu639=
NM_001128840.2:c.1917A>G	NP_001122312.1:p.Leu639=
XM_005265448.2:c.1917A>G	XP_005265505.1:p.Leu639=
XM_011534094.1:c.2088A>G	XP_011532396.1:p.Leu696=
XM_011534095.1:c.1977A>G	XP_011532397.1:p.Leu659=
XM_011534096.1:c.2028A>G	XP_011532398.1:p.Leu676=
XM_011534097.1:c.1551A>G	XP_011532399.1:p.Leu517=
XM_011534098.1:c.1551A>G	XP_011532400.1:p.Leu517=
XM_011534099.1:c.1176A>G	XP_011532401.1:p.Leu392=
XM_011534100.1:c.2028A>G	XP_011532402.1:p.Leu676=
XM_005265448.3:c.1917A>G	XP_005265505.1:p.Leu639=
XM_011534094.2:c.2088A>G	XP_011532396.1:p.Leu696=
XM_011534096.2:c.2028A>G	XP_011532398.1:p.Leu676=
XM_011534097.2:c.1551A>G	XP_011532399.1:p.Leu517=
XM_011534099.2:c.1176A>G	XP_011532401.1:p.Leu392=
XM_011534100.2:c.2028A>G	XP_011532402.1:p.Leu676=
XM_017007137.1:c.2088A>G	XP_016862626.1:p.Leu696=
XM_017007138.1:c.2088A>G	XP_016862627.1:p.Leu696=
XM_017007139.1:c.2088A>G	XP_016862628.1:p.Leu696=
XM_017007140.1:c.2028A>G	XP_016862629.1:p.Leu676=
XM_017007141.1:c.2028A>G	XP_016862630.1:p.Leu676=
XM_017007142.1:c.2088A>G	XP_016862631.1:p.Leu696=
XM_017007143.1:c.2088A>G	XP_016862632.1:p.Leu696=
XM_017007144.1:c.2088A>G	XP_016862633.1:p.Leu696=
XM_017007145.1:c.2088A>G	XP_016862634.1:p.Leu696=
NM_001128840.3:c.1917A>G MANE Select	NP_001122312.1:p.Leu639=
NM_000720.4:c.1977A>G MANE Plus Clinical	NP_000711.1:p.Leu659=
NM_001128839.3:c.1917A>G	NP_001122311.1:p.Leu639=